NM_006231.4(POLE):c.2781C>T (p.Asn927=) AND not specified

Clinical significance:Benign (Last evaluated: May 25, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000431063.4

Allele description [Variation Report for NM_006231.4(POLE):c.2781C>T (p.Asn927=)]

NM_006231.4(POLE):c.2781C>T (p.Asn927=)

Gene:
POLE:DNA polymerase epsilon, catalytic subunit [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12q24.33
Genomic location:
Preferred name:
NM_006231.4(POLE):c.2781C>T (p.Asn927=)
HGVS:
  • NC_000012.12:g.132661610G>A
  • NG_033840.1:g.30915C>T
  • NM_006231.3:c.2781C>T
  • NM_006231.4:c.2781C>TMANE SELECT
  • NP_006222.2:p.Asn927=
  • NP_006222.2:p.Asn927=
  • LRG_789t1:c.2781C>T
  • LRG_789:g.30915C>T
  • LRG_789p1:p.Asn927=
  • NC_000012.11:g.133238196G>A
  • NM_006231.2:c.2781C>T
Links:
dbSNP: rs775486303
NCBI 1000 Genomes Browser:
rs775486303
Molecular consequence:
  • NM_006231.3:c.2781C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_006231.4:c.2781C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001469620Quest Diagnostics Nichols Institute San Juan Capistranocriteria provided, single submitter
Benign
(May 25, 2020)
unknownclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]
PMID:
26467025
PMCID:
PMC4737317

Details of each submission

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV001469620.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 10, 2021

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